... (Table 62 -1). The
ongoing refinement of bioinformatics is simplifying the access to this seemingly
daunting onslaught of new information.
Chapter 062. Principles of
Human Genetics
(Part 1)
... Internal Medicine > Chapter 62. Principles of Human
Genetics
Impact of Genetics on Medical Practice
Impact of Genetics on Medical Practice: Introductio...
... Bases of
Inherited Disease
(OMMBID)
http:/ /genetics. accessmedicine.com Online
version of the
comprehensive text
on The Metabolic
and Molecular
Bases of Inherited
Disease, 8e
Chapter 062. ...
on The Metabolic
and Molecular
Bases of Inherited
Disease, 8e
Chapter 062. Principles of
Human Genetics
(Part 1)
Table 62-1 Selected Databases Relevant for Ge...
... (or linked
genes) with the presence of a disease or genetic trait (see below).
Chapter 062. Principles of
Human Genetics
(Part 4)
Figure 62-2
Flow of genetic information. Multiple extracellular ... regulation of gene expression
through the interaction of transcription factors with regulatory regions of genes.
RNA polymerase transcribes DNA into RNA that is pr...
... disease genes can be mapped using allelic association
studies (Table 62-8).
Chapter 062. Principles of
Human Genetics
(Part 26)
Table 62-8 Genetic Approaches for Identifying Disease Genes
... or increase
susceptibility to human disease: (1) classic linkage can be performed based on a
known genetic model or, when the model is unknown, by studying pairs of
affected...
... contributing to the pathogenesis of common
complex disorders remains a great challenge. In many instances, these are low-
Chapter 062. Principles of
Human Genetics
(Part 28)
Allelic Association, ... cost and workload
(Fig. 62-8).
The availability of this information permits the characterization of a limited
number of SNPs to identify the set of haplotypes prese...
... but the largest genes (Fig. 62-14).
Figure 62-14
Chapter 062. Principles of
Human Genetics
(Part 29)
Population Genetics
In population genetics, the focus changes from alterations in an ... with p
2
corresponding to the frequency of AA, 2pq to the
frequency of Aa, and q
2
to aa. When the frequency of an allele is known, the
frequency of the genotype can be c...
... Chapter 062. Principles of
Human Genetics
(Part 5)
Figure 62-3
Crossing-over and genetic recombination. During chiasma formation,
either of the two sister chromatids ... sequences upstream
(5') of the transcription start site, although there are also examples of control
elements within introns or downstream of the coding regions of a gene. The
upstream re...
... deletion mutations of the β-
globin gene or larger deletions of the globin locus that can also result in
Chapter 062. Principles of
Human Genetics
(Part 6)
The number of DNA sequences and ...
Figure 62-5
A. Examples of mutations. The coding strand is shown with the encoded
amino acid sequence. B. Chromatograms of sequence analyses after amplification
of geno...
... receptor.
Chapter 062. Principles of
Human Genetics
(Part 7)
Transcriptional Activation and Repression
Every gene is controlled uniquely, whether in its spatial or temporal pattern
of expression ... representative of this group of
diseases; mutations in several different islet cell–specific transcription factors
cause various forms of MODY (Chap. 338).
Table 62...
... are widely used in genetics and molecular
diagnostics, however, it is useful to review briefly some of the fundamental
principles of cloning and DNA sequencing.
Cloning of Genes
Cloning refers ... DNA
A description of recombinant DNA techniques, the methodology used for
the manipulation, analysis, and characterization of DNA segments, is beyond the
scope of this chapter...